A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2627109



Internal ID8690667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183885527..183886538hg38UCSC Ensembl
Outerchr4:184806680..184807691hg19UCSC Ensembl
Outerchr4:185043674..185044685hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5284735
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2627109
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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